General, verbal, and non-verbal cognitive functioning of children and adolescents with 22q11.2 Deletion Syndrome

ABSTRACT Background: Cognitive dysfunctions are frequently found in the 22q11.2 Deletion Syndrome, being an aggravating factor in the impairment of social relationships and communication, strongly impacting the functionality of the individual. Increasing the knowledge regarding cognitive skills may provide contributions to the diagnostic process and the intervention planning. Objectives: To estimate the general, verbal, and non-verbal cognitive functioning of children and adolescents with 22q11.2 Deletion Syndrome. Methods: This is a cross-sectional, descriptive, and case series study regarding 15 individuals between 7-18 years-old diagnosed with 22q11.2 Deletion Syndrome. An assessment of the cognitive functions was performed using the Wechsler Abbreviated Scale of Intelligence (WASI). For data analysis we used a descriptive statistics analysis, having absolute frequencies for variables, and mean, median, standard deviation, minimum and maximum values for numerical variables. Results: In the group analysis, we observed an important cognitive impairment degree. Most of the sampling (n=8; 53.33%) presented a considerably low total intelligence quotient score. Cases showing lower performances also presented greater difficulties regarding Visual Motor and Visuospatial coordination. Regarding the intelligence quotient representative punctuation in the WASI scale, the sample showed a large variability in the results (between 40 and 92 points), with the median total of 83. Conclusions: We observed important dysfunctions, cognitive difficulties, and intellectual, verbal, and non-verbal disabilities in the population studied. These findings indicate the need for an early intervention to assist not only the cognitive aspect, but also the socio-emotional development of children with the 22q11.2 Deletion Syndrome, aiming at their participation in society

Punto de deflexión de la frecuencia cardíaca como método alternativo de identificación del umbral anaeróbico en pacientes con diabetes tipo 2

  Objetivos: El propósito de este artículo fue evaluar la concordancia entre frecuencia cardíaca (FC) y velocidad en la cinta de correr correspondiente al umbral anaeróbico medido por el segundo umbral ventilatorio (UV2) y por el punto de deflexión de la FC (PDFC) en pacientes con diabetes tipo 2.Métodos: Se evaluaron 32 pacientes sedentarios (56,1 ± 7,7 años) para determinar los valores de los umbrales. Los pacientes realizaron una prueba de esfuerzo incremental a una velocidad inicial de 3 km h−1 durante 3 min, con incrementos de 1 km h−1 cada 2 min. Se analizó el grado de concordancia entre UV2 y PDFC mediante el test de Bland-Altman.Resultados: Los pacientes mostraron una FC de 133 ± 16 lpm en UV2 y 133 ± 18 lpm en PDFC. La velocidad media correspondiente a UV2 fue 6,3 ± 0,7 km h−1 y la correspondiente a PDFC fue 6,4 ± 1,1 km h−1. No hubo diferencias significativas entre los métodos evaluados (FC: p = 0,78; velocidad media: p = 0,57).Conclusión: Esta investigación concluye que existe correspondencia entre los métodos UV2 y PDFC en FC y la velocidad media en la cinta de correr; por lo tanto, cualquiera de estos 2 métodos puede ser usado en estos pacientes

Punt de deflexió de la freqüència cardíaca com a mètode alternatiu d’identificació del llindar anaeròbic en pacients amb diabetis tipus 2

  Objectius: El propòsit d’aquest article fou avaluar la concordança entre freqüència cardíaca (FC) i velocitat en la cinta de córrer corresponent al llindar anaeròbic mesurada pel segon llindar ventilatori (LV2) i pel punt de deflexió de l’FC (PDFC) en pacients amb diabetis tipus 2.Mètodes: S’avaluaren 32 pacients sedentaris (56,1 ± 7,7 anys). Per determinar els valors dels llindars, els pacients realitzaren una prova d’esforç incremental a una velocitat inicial de 3 km h−1 durant 3 min, amb increments d’1 km h−1 cada 2 min. S’analitzà el grau de concordança entre LV2 i PDFC mitjançant el test de Bland-Altman.Resultats: Els pacients mostraren una FC de 133 ± 16 bpm en LV2 i 133 ± 18 bpm en PDFC. La velocitat mitjana corresponent a LV2 fou de 6,3 ± 0,7 km h−1 i la corresponent a PDFC fou de 6,4 ± 1,1 km h−1. No hi hagué diferències significatives entre els mètodes avaluats (FC: p = 0,78; velocitat mitjana: p = 0,57).Conclusió: Aquesta recerca conclou que hi ha correspondència entre els mètodes LV2 i PDFC en l’FC i la velocitat mitjana a la cinta de córrer, i, per tant, qualsevol dels 2 mètodes pot ser emprat en aquests pacients

Nutraceuticals for Dissolving Nephrolites in Cats

Background: Nephrolithiasis is a condition frequently observed in felines, with or without concomitant chronic kidney disease, constituting the major cause of ureteral obstruction and causing progressive damage to the renal parenchyma. About 90% of nephrolites are composed of calcium oxalate, which cannot dissolve, and its incidence has increased substantially in recent years, along with its recurrence. There are functional foods known as nutraceuticals provides health benefits such as renoprotection. Due to these benefits and the high prevalence of nephrolithiasis in feline species, the present study aimed to evaluate the efficacy of the association of some nutraceuticals in the dissolution of nephrolites.Materials, Methods & Results: The included cats had an ultrasound diagnosis of nephrolithiasis that, on clinical examination, showed: (i) the absence of previous or concomitant treatment for urinary infections and/or vesical and renal lithiasis; (ii) absence of genitourinary clinical manifestations; (iii) absence of obstructive processes; and (iv) absence of concomitant ureterolithiasis. We separated 51 cats with nephrolithiasis into 2 groups: control (n = 12) and study (n = 39). The control group received a placebo and the study group, nutraceuticals (magnesium chelate, resveratrol, vitamin K2, docosahexaenoic acid, and eicosapentaenoic acid). Laboratory tests (blood and urine) and abdominal imaging (ultrasound) were performed at day 0 and 30 days after enrollment. Monitoring the therapeutic efficacy in both groups was performed on day 30 for the CG and on days 30, 60, and 90 for the EG. The CG cats, after this step, were referred to surgery or to the EG, with prior authorization from their tutors. The diameter of nephrolites was significantly different before and after treatment, indicating a reduction in nephroliths over time. During the use of the nutraceutical formulation by the EG and use of placebo by the CG, there were no clinical and/or laboratory manifestations of side effects.Discussion: The dissolution of nephrolites was correlated with the synergism promoted by the combination of nutraceuticals and not with the individual beneficial action of each nutraceutical since nutraceuticals have individually been used in isolation for a long time in veterinary medicine without having yielded the same benefit. Those undissolved were attributed to a different type of mineral composition than the one associated with the nutraceutical compound in this study, such as struvite or ammonium urate, of mixed composition or comprising solidified dried blood, which has shown an increasing increase in use in recent years. The dissolution of nephrolites was correlated with the synergism promoted by the combination of nutraceuticals and not with the individual beneficial action of each nutraceutical since nutraceuticals have individually been used in isolation for a long time in veterinary medicine without having yielded the same benefit. The undissolved nephrolites were attributed to the nephrolites that obtained partial dissolution at the end of 90 days, in that they possibly needed a longer time to obtain complete dissolution or that they present another mineral composition in their nucleus; that is, it is a compound-type urolith. The nutraceutical compound proved to be effective in the dissolution of nephrolites in the cats included in this study, and the time of use (up to 90 days) showed no negative influence on the clinical or laboratory tests during the entire treatment period.Keywords: cats, food supplement, functional foods, natural products, nephrolithiasis, nutraceuticals

Malignant tumor of the peripheral nerve sheath in a left Whippet canine kidney

Background: Malignant tumors of the peripheral nerve sheath (MTPNS`s) are considered rare tumors that can affect soft tissues. In dogs, the occurrence is more common in the nerves of the brachial plexus, but they can affect the lumbosacral plexus and cranial nerves. Rarely, they can affect spinal nerves and nerve roots and the urinary tract, especially in kidneys. The present report aims to describe a clinical case of a 10-year-old sterilized female whippet, who had a history of persistent hematuria for months, with subsequent diagnosis of MTPNS as the cause of hematuria.Case: The patient came for evaluation with a history of persistent hematuria. Evaluation of abnormal elements and sedimentation, showed the description of numerous red blood cells and the presence of proteinuria. The abdominal ultrasound revealed a left kidney with enlarged dimensions, irregular contour, loss of corticomedullary definition. The urinary vesicle showed an increase in cellularity. On physical examination, the patient had vital parameters within the normal range. A Snap 4DX® Plus exam was requested, which showed a reaction for Dirofilaria immitis. With this result, it was initially suspected that renal vasculitis. After starting the treatment, the patient started to present normal colored urine. However, after the end of this period, the patient returned to hematuria. After six months of treatment and without justification for the permanence of hematuria, urethrocystoscopy was indicated, which revealed a urinary vesicle with a hemorrhagic focus. A urinary bladder wall biopsy was performed, which showed no changes. Four months after the urethrocystoscopic exam, the patient had her first azotemic crisis. This time that the left renal neoformation observed on ultrasound examination. With the discovery of the origin of the problem, a therapeutic approach could be instituted, consisting of the left nephrectomy. The histopathological analysis showed malignant spindle cell neoplasia. Immunohistochemical analysis in peroxidase revealed positivity for the markers, concluding the diagnosis as a tumor of the peripheral nerve sheath. Seven months after surgery, a new ultrasound examination of the abdominal region, as well as tests for the assessment of renal function, all of which were within normal parameters.Discussion: Most of the MTPNS originate in the peripheral nerves and in the cranial nerve sheath, but it can rarely originate in the abdominal cavity, as in the case reported here, in which the origin was renal. Such neoplasms are not common in dogs, with an incidence of 0.5%. The age of the affected dogs is, on average, nine years for the appearance of the neoplasia, with females with the highest frequency of occurrence. Both data corroborate the patient's age at the time of diagnosis. This is a tumor that is considered to be highly malignant and progressive, which did not occur in the patient in question, since she had a history of persistent hematuria for a long period, with no manifestation of the presence of the tumor on imaging. Still regarding the clinical manifestation of the patient's persistent hematuria, the same occurrence can be observed in a human patient who also reported a history of persistent hematuria and, like the patient in the report, not associated with any other clinical signs. It is important to differentiate this type of neoplasia from the others, because in many cases, the histological patterns are similar, making the performance of immunohistochemistry essential for the diagnosis. Renal MTPNS is rare in humans, and in dogs it is no different. This fact makes it difficult to describe the prognosis. Thus, efforts should be considered for the early diagnosis of peripheral nerve neoplasms, in view of their low response to available halopathic treatments and taking into account the rare aspect and evolution of this disease

MOTIVOS RELACIONADOS AO ATRASO DO ESQUEMA VACINAL EM CRIANÇAS DO MUNICÍPIO DE CANOAS/RS

Introduction: Vaccination is the safest means of preventing vaccine-preventable diseases, in addition, it has a low cost compared to the treatment of these diseases. It is estimated that every year, around two million child deaths occur worldwide as a result of preventable diseases. Based on this, knowing the reasons for the delay in the child's vaccination schedule is necessary. Objective: To describe the perception of professional nursing technicians in the vaccination room in relation to the statements of parents/guardians about the delay in the child's vaccination schedule. Method: This is a descriptive quantitative research. Data collection was carried out with 129 nursing technicians from the basic health network of Canoas, during the Training in Vaccine Room, promoted by PET-Interprofessional Health, on the premises of ULBRA/Canoas, in October 2019. The instrument used brought identification data and a guiding question: What were the justifications of the parents or guardians, in the vaccination room, in relation to the child's immunization delay? The open question was answered in a group of 3 to 4 professionals. Results: 256 responses were obtained, among the most relevant reasons are: the child's illness and hospitalization; the responsible person works and cannot take the child to the unit; he forgot to look at the due date and the loss of his vaccination card. Conclusion: Taking into account that the child is a dependent being, parents and guardians have a fundamental role in the care of their children's health, as well as the responsibility in the face of illness.Introducción: La vacunación es el medio más seguro de prevención de enfermedades prevenibles, además, tiene un bajo costo en comparación con el tratamiento de estas enfermedades. Se estima que cada año, alrededor de dos millones de muertes infantiles ocurren en todo el mundo debido a enfermedades prevenibles. En base a esto, es necesario conocer las razones del retraso en el calendario de vacunación del niño. Objetivo: Describir la percepción de los técnicos de enfermería, desde la sala de vacunación, en relación con las declaraciones de los padres/tutores sobre el retraso en el calendario de vacunación del niño. Método: Se trata de una investigación cuantitativa descriptiva. La recolección de datos se realizó con los 129 técnicos de enfermería de la red básica de salud de Canoas durante la Capacitación en la Sala de Vacunación, promovida por PET-Saúde Interprofissional, en las instalaciones de ulbra/canoas, en octubre de 2019. El instrumento utilizado trajo datos de identificación y, una pregunta guía: ¿Cuáles fueron las justificaciones de los padres o tutores, en la sala de vacunación, con respecto al retraso de la vacunación del niño? La pregunta abierta fue respondida en un grupo de 3 a 4 profesionales. Resultados: Se obtuvieron un total de 256 respuestas, entre las razones más relevantes: enfermedad y hospitalización del niño; el tutor trabaja y no hay forma de llevar al niño a la unidad; olvidé mirar la fecha ordenada y la pérdida de la tarjeta de vacunación. Introdução: A vacinação é um meio seguro de prevenção de doenças imunopreveníveis e têm um baixo custo em comparação ao tratamento destas doenças. Tem se registrado anualmente milhões de óbitos infantis no mundo em decorrência de doenças passíveis de prevenção. Com base nisso, conhecer os motivos do atraso no esquema vacinal da criança é necessário. Objetivo: Descrever a percepção dos profissionais técnicos de enfermagem, das salas de vacinas, em relação as falas dos pais/responsáveis a respeito do atraso no esquema vacinal da criança. Método: Trata-se de pesquisa quantitativa e descritiva. A coleta de dados foi realizada com os 129 técnicos de enfermagem, da rede básica de saúde de Canoas, durante a Capacitação em Sala de Vacinas, promovida pelo PET-Saúde Interprofissional, nas dependências da ULBRA/Canoas, em outubro de 2019. O instrumento usado trouxe dados de identificação e, uma questão norteadora: Quais foram as justificativas dos pais ou responsáveis, na sala de vacinas, em relação ao atraso vacinal da criança? A questão aberta foi respondida em grupo de 3 a 4 profissionais. Resultados: Foram obtidas 256 respostas, dentre os motivos mais relevantes está: o adoecimento e hospitalização da criança; o responsável trabalha e não tem como levar a criança até a unidade; esqueceu-se de olhar a data aprazada e a perda da carteira de vacinação. Conclusão: Levando em consideração que a criança é um ser dependente, os pais e responsáveis tem papel fundamental no cuidado à saúde de seus filhos, bem como, a responsabilidade diante do adoecimento.